PAH c.1111A>G ;(p.K371E)

Variant ID: 12-103237512-T-C

NM_000277.1(PAH):c.1111A>G;(p.K371E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance.

Molecular Genetics And Metabolism Reports
Kreile, M M; Lubina, O O; Ozola-Zalite, I I; Lugovska, R R; Pronina, N N; Sterna, O O; Vevere, P P; Konika, M M; Malniece, I I; Gailite, L L
Publication Date: 2020-12

Variant appearance in text: PAH: 1111A>G; Lys371Glu
PubMed Link: 33101986
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page